DMXL2

DMXL2
Identifiers
Aliases	DMXL2, RC3, PEPNS, Dmx like 2, DFNA71, EIEE81
External IDs	OMIM: 612186; MGI: 2444630; HomoloGene: 41022; GeneCards: DMXL2; OMA:DMXL2 - orthologs
Gene location (Human) Chr. Chromosome 15 (human) Band 15q21.2 Start 51,447,711 bp End 51,622,833 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9|9 A5.3 Start 54,272,442 bp End 54,408,910 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte granulocyte postcentral gyrus Brodmann area 9 corpus epididymis pars compacta right uterine tube cerebellar cortex lateral nuclear group of thalamus cerebellar hemisphere Top expressed in superior cervical ganglion lobe of cerebellum anterior amygdaloid area subiculum iris cerebellar vermis primary motor cortex Epithelium of choroid plexus piriform cortex pontine nuclei More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 23312 235380 Ensembl ENSG00000104093 ENSMUSG00000041268 UniProt Q8TDJ6 Q8BPN8 RefSeq (mRNA) NM_001174116 NM_001174117 NM_015263 NM_172771 RefSeq (protein) NP_001167587 NP_001167588 NP_056078 NP_001365386 NP_001365387 NP_001365388 NP_001365389 NP_001365390 NP_001365391 NP_001365392 NP_001365393 NP_766359 Location (UCSC) Chr 15: 51.45 – 51.62 Mb Chr 9: 54.27 – 54.41 Mb PubMed search
Wikidata
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Dmx-like 2 is a protein that in humans is encoded by the DMXL2 gene.

Function

This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human celines. A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene.

Clinical relevance

Haplosufficiency of Dmxl2 has been identified as the cause of Polyendocrine-polyneuropathy syndrome[1], and delayed puberty. Research has indicated that this is a result of altered function of CNS synapses (in which the protein product of Dmxl2 is expressed) causing altered activation of the GnRH neurons of the hypothalamus.

See also

• DmX gene - the homolog in D. melanogaster

Further reading

• Nagano F, Kawabe H, Nakanishi H, Shinohara M, Deguchi-Tawarada M, Takeuchi M, Sasaki T, Takai Y (2002). "Rabconnectin-3, a novel protein that binds both GDP/GTP exchange protein and GTPase-activating protein for Rab3 small G protein family". Journal of Biological Chemistry. 277 (12): 9629–32. doi:10.1074/jbc.C100730200. PMID 11809763.
• Sethi N, Yan Y, Quek D, Schupbach T, Kang Y (2010). "Rabconnectin-3 is a functional regulator of mammalian Notch signaling". Journal of Biological Chemistry. 285 (45): 34757–64. doi:10.1074/jbc.M110.158634. PMC 2966091. PMID 20810660.
• Luke MM, O'Meara ES, Rowland CM, Shiffman D, Bare LA, Arellano AR, Longstreth WT, Lumley T, Rice K, Tracy RP, Devlin JJ, Psaty BM (2009). "Gene variants associated with ischemic stroke: The cardiovascular health study". Stroke. 40 (2): 363–8. doi:10.1161/STROKEAHA.108.521328. PMC 2881155. PMID 19023099.
• Shiffman D, O'Meara ES, Bare LA, Rowland CM, Louie JZ, Arellano AR, Lumley T, Rice K, Iakoubova O, Luke MM, Young BA, Malloy MJ, Kane JP, Ellis SG, Tracy RP, Devlin JJ, Psaty BM (2008). "Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study". Arteriosclerosis, Thrombosis, and Vascular Biology. 28 (1): 173–9. doi:10.1161/ATVBAHA.107.153981. PMC 2636623. PMID 17975119.
• Kawabe H, Sakisaka T, Yasumi M, Shingai T, Izumi G, Nagano F, Deguchi-Tawarada M, Takeuchi M, Nakanishi H, Takai Y (2003). "A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca(2+)-dependent exocytosis of neurotransmitter". Genes to Cells. 8 (6): 537–46. doi:10.1046/j.1365-2443.2003.00655.x. PMID 12786944.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.